. There is a proposal that the symptoms of autism result from a change in gene d
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Question
. There is a proposal that the symptoms of autism result from a change in gene dosage caused by small duplications or deficiencies (Marshal et al., Am J. Human Genetics, 82:477-88, 2008). A patient has been brought to you with symptoms of autism. The hypothesis is that the cause of this person’s symptoms is an increase in the number of copies of the CDP gene (CCAAT Displacement Protein), a homeobox gene that functions as a nuclear transcription factor during development. Explain the test or tests you would do to see if this hypothesis is correct. Explain why you think that this test would prove or disprove the hypothesis. Briefly describe the results you would expect from your test if the hypothesis were true.
Explanation / Answer
According to hypothesis, the CDP gene is responsible for the autism disease. This hypothesis can be test by the expressing the encoding protein. We know that every gene produce a specific protein. So we can be tested the hypothesis by taking DNA sample and by inserting into plasmid and make multiple copies. Then we will insert into suitable host for the production of encoding protein. After 3 or 4 generation we will extract the protein and do western blot. By this way we can observe this hypothesis.
There is another way also possible i.e. using of DNA array technology because we know the sequence of gene responsible for autism. We will prepare DNA array by the using the probe and extract the DNA from patient blood and after isolation DNA we will do this test if there is presence of autism gene sequence occur they will bind to their complementary probe by which we can test this hypothesis.
If there is presence of autism encoding gene this hypothesis would be proved correct because there is presence of sequence and DNA array technology confirm work because it have complementary probe.
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